Canonical Allele Identifier: CA44386046

Gene: HADHA

Linked Data

• dbSNP Id: rs1054551534
• gnomAD v3: 2-26203963-GAACA-G
• gnomAD v4: 2-26203963-GAACA-G
• MyVariant Identifiers: chr2:g.26426833_26426836del (hg19) ; chr2:g.26203964_26203967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26203974_26203977del , CM000664.2:g.26203974_26203977del	GRCh38
NC_000002.11:g.26426843_26426846del , CM000664.1:g.26426843_26426846del	GRCh37
NC_000002.10:g.26280347_26280350del	NCBI36
NG_007121.1:g.45654_45657del
NG_007121.2:g.45655_45658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+95_1220+98del MANE Select	ENSP00000370023.3:n.1220+95_1220+98del
ENST00000492433.2:c.1220+95_1220+98del	ENSP00000438039.2:n.1220+95_1220+98del
ENST00000643057.1:c.*1111+95_*1111+98del	ENSP00000493761.1:n.*1111+95_*1111+98del
ENST00000643063.1:c.*266+95_*266+98del	ENSP00000495353.1:n.*266+95_*266+98del
ENST00000643233.1:c.*1111+95_*1111+98del	ENSP00000493880.1:n.*1111+95_*1111+98del
ENST00000644428.1:c.1220+95_1220+98del	ENSP00000495560.1:n.1220+95_1220+98del
ENST00000645274.1:c.1115+95_1115+98del	ENSP00000493996.1:n.1115+95_1115+98del
ENST00000646031.1:c.579+95_579+98del
ENST00000646483.1:c.1086+95_1086+98del	ENSP00000496185.1:n.1086+95_1086+98del
ENST00000380649.7:c.1220+95_1220+98del	ENSP00000370023.3:n.1220+95_1220+98del
NM_000182.4:c.1220+95_1220+98del	NP_000173.2:n.1220+95_1220+98del
NM_000182.5:c.1220+95_1220+98del MANE Select	NP_000173.2:n.1220+95_1220+98del